Olgu Sunumu
Yıl 2022,
Cilt: 44 Sayı: 2, 228 - 232, 30.06.2022
Öz
Destekleyen Kurum
Yok
Proje Numarası
Yok
Teşekkür
Yok
Kaynakça
- 1. Patil SA, Maegawa GH. Developing therapeutic approaches for metachromatic leukodystrophy. Drug Des Devel Ther 2013;7: 729–745.
- 2. Kliegman RM, Stanton BF, St Geme JW, Schor NF, Behrman RE. Neurodegenerative disorders of childhood. In: Kwon JM, editor. Nelson Textbook of Pediatrics. 19th ed. Philadelphia: WB Saunders; 2011. p. 2072.
- 3. Luzi P, Rafi MA, Rao HZ, Wenger DA. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. Gene 2013;530:323–328.
- 4. Wang RY, Bodamer OA, Watson MS, Wilcox WR. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med 2011;13: 457–484.
- 5. Gieselmann V, Krageloh-Mann I. Metachromatic leukodystrophy e an update. Neuropediatrics 2010;41(1):1e6.
- 6. Kehrer C, Groeschel S, Kustermann-Kuhn B, et al. Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort. Orphanet J Rare Dis 2014;9(1):18.
- 7. Groeschel S, Dali C, Clas P, et al. Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. Neurology. 2012;79: 1662- 1670.
- 8. Michael V Johnson Neurodegenerative disorders of childhood. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, PA: W.B. Saunders Company; 2008: 592- 598.
- 9. Martin A, Sevin C, Lazarus C, et al. Toward a better understanding of brain lesions during metachromatic leukodystrophy evolution. Am J Neuroradiol 2012;33(9):1731e9.
- 10. Eichler F, Grodd W, Grant E, et al. Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. Am J Neuroradiol 2009;30(10):1893e7.
- 11. Assadi M, Wang DJ, Velazquez-Rodriquez Y, et al. Multi-voxel 1H MRS in metachromatic leukodystrophy. J Cent Nerv Syst Dis 2013;5:25e30.
- 12. Rauschka H, Colsch B, Baumann N, et al. Late onset metachromatic leukodystrophy genotype strongly influences phenotype. Neurology 2006;67:859–863
- 13. Gomez-Ospina N. Arylsulfatase A deficiency. GeneReviews 2020 PMID: 20301309
- 14. Kidd D, Nelson J, Jones F, et al. Long term stabilization after bone marrow transplantation in juvenile metachromatic leukodystrophy treated by bone marrow transplantation. Bone Marrow Transplant. 1996: 1003-1008.
- 15. Pierson TM, Bonnemann CG, Finkel RS, Bunin N, Tennekoon GI. Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. Ann Neurol 2008;64: 583- 587.
A Late Juvenile Onset Type Metachromatic Leukodystrophy Case Presenting With Continuous Pseudobulbar Crying
Öz
Introduction: Metachromatic leukodystrophy(MLD) is a rare inherited lysosomal disorder caused by autosomal recessive mutations in Arylsulfatase A(ASA) gene which encodes ASA enzyme. The disease is divided into late-infantile, juvenile and adult onset types according to the onset age.
Case: A 20 year-old female patient presented with continuous crying which started two days ago. She had generalized seizures for ten years, required two anti-epileptic drugs to control. Neurological examination revealed generalized spasticity with exaggerated deep tendon reflexes and extensor plantar responses. Her electroencephalogram showed paroxysmal cortical slowing without epileptic activities. Systemic examination and blood biochemistry was unremarkable. Brain magnetic resonance imaging (MRI) yielded abnormal findings, suggesting the diagnosis of MLD. ASA activity in the peripheral blood leukocytes was found to be decreased in a referral laboratory. Genetic examination revealed that the patient had a compound heterozygous mutation of I179S in the PSAP gene. The patient was discharged with partial improvement under quetiapine treatment.
Discussion and Conclusion: MLD is a progressive rare inherited disease caused by a deficiency in the enzyme activity of ASA. Inevitable neurological sequelae develop as the disease progresses. Generalized cortical atrophy and symmetrical extensive hyperintense signal changes in periventricular white matter on MRI, decreased activity of ASA and mutation in the PSAP gene confirm the diagnosis. In conclusion, we report a case with continous pseudobulbar crying, which can be the result of changes on MRI due to MLD.
Anahtar Kelimeler
metachromatic leukodystrophy arylsulfatase A pseudobulbar crying
Proje Numarası
Yok
Kaynakça
- 1. Patil SA, Maegawa GH. Developing therapeutic approaches for metachromatic leukodystrophy. Drug Des Devel Ther 2013;7: 729–745.
- 2. Kliegman RM, Stanton BF, St Geme JW, Schor NF, Behrman RE. Neurodegenerative disorders of childhood. In: Kwon JM, editor. Nelson Textbook of Pediatrics. 19th ed. Philadelphia: WB Saunders; 2011. p. 2072.
- 3. Luzi P, Rafi MA, Rao HZ, Wenger DA. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. Gene 2013;530:323–328.
- 4. Wang RY, Bodamer OA, Watson MS, Wilcox WR. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med 2011;13: 457–484.
- 5. Gieselmann V, Krageloh-Mann I. Metachromatic leukodystrophy e an update. Neuropediatrics 2010;41(1):1e6.
- 6. Kehrer C, Groeschel S, Kustermann-Kuhn B, et al. Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort. Orphanet J Rare Dis 2014;9(1):18.
- 7. Groeschel S, Dali C, Clas P, et al. Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. Neurology. 2012;79: 1662- 1670.
- 8. Michael V Johnson Neurodegenerative disorders of childhood. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, PA: W.B. Saunders Company; 2008: 592- 598.
- 9. Martin A, Sevin C, Lazarus C, et al. Toward a better understanding of brain lesions during metachromatic leukodystrophy evolution. Am J Neuroradiol 2012;33(9):1731e9.
- 10. Eichler F, Grodd W, Grant E, et al. Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. Am J Neuroradiol 2009;30(10):1893e7.
- 11. Assadi M, Wang DJ, Velazquez-Rodriquez Y, et al. Multi-voxel 1H MRS in metachromatic leukodystrophy. J Cent Nerv Syst Dis 2013;5:25e30.
- 12. Rauschka H, Colsch B, Baumann N, et al. Late onset metachromatic leukodystrophy genotype strongly influences phenotype. Neurology 2006;67:859–863
- 13. Gomez-Ospina N. Arylsulfatase A deficiency. GeneReviews 2020 PMID: 20301309
- 14. Kidd D, Nelson J, Jones F, et al. Long term stabilization after bone marrow transplantation in juvenile metachromatic leukodystrophy treated by bone marrow transplantation. Bone Marrow Transplant. 1996: 1003-1008.
- 15. Pierson TM, Bonnemann CG, Finkel RS, Bunin N, Tennekoon GI. Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. Ann Neurol 2008;64: 583- 587.
Toplam 15 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Olgu Sunumları |
| Yazarlar | |
| Proje Numarası | Yok |
| Yayımlanma Tarihi | 30 Haziran 2022 |
| Kabul Tarihi | 30 Haziran 2022 |
| Yayımlandığı Sayı | Yıl 2022Cilt: 44 Sayı: 2 |